3003656
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Alpha Thalassemia ( HBA1 and HBA2 ) Deletion/Duplication with reflex to Hb Constant Spring, Fetal

HBA DDCSFE
Example Reports
Negative
Positive

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Fetal Molecular Testing Patient History Form

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Informed Consent for Genetic Testing (Required for NY Patients)

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Additional Technical Information

Ordering Recommendation

Diagnostic testing for alpha thalassemia in fetus with suggestive clinical findings or at risk for alpha thalassemia due to familial HBA1/HBA2 deletions or hemoglobin Constant Spring (HbCS) variant. Use to detect common as well as rare and novel deletions or duplications of the alpha globin gene cluster and the HbCS variant.

Maternal cell contamination (MCC) analysis is required and performed at no additional charge. Order Maternal Cell Contamination, Maternal Specimen (0050608) on a maternal blood specimen.

For guidance on ordering maternal cell contamination studies, please refer to Maternal Cell Contamination (MCC) Analysis Guide.  

New York DOH Approval Status

This test is New York state approved.

Specimen Required

Patient Preparation
Collect

Fetal Specimen: Cultured amniocytes OR cultured chorionic villus sampling (CVS).
Maternal Specimen: Refer to Maternal Cell Contamination, Maternal Specimen (0050608) for maternal specimen requirements.

Specimen Preparation

Transport: Two T-25 flasks of 80% confluent cultured amniocytes OR
Two T-25 flasks of 80% confluent cultured chorionic villus sampling (CVS). Cultured amniocytes or cultured CVS is required for testing. If submitting uncultured (direct) amniotic fluid or (direct) CVS and testing is desired on a cultured specimen, add Cell Culture for Genetic Testing (3020627). If transporting flasks, the client is responsible for maintaining backup cultures at the client institution. If ARUP receives cultured fetal cells below minimum confluence, Cell Culture for Genetic Testing (3020627) will be added by ARUP.

Storage/Transport Temperature

Preferred transport: Room temperature.
Preferred shipment: Within two days of collection or confluence.

Unacceptable Conditions

Frozen specimens.

Remarks

Counseling and informed consent are recommended for genetic testing. Consent forms are linked above.
New York Clients: Informed consent is required with submission.

Stability

Room temperature: 2 days; Refrigerated: Unacceptable; Frozen: Unacceptable

Methodology

Multiplex Ligation-Dependent Probe Amplification (MLPA) / Sequencing

Performed

Varies

Reported

9-10 days
If culture is required, an additional 1 to 2 weeks is required for processing time.

Reference Interval

Refer to report

Interpretive Data

Refer to report.

Compliance Category

Laboratory Developed Test (LDT)

Note

If a concurrent deletion of HBA2 is not identified, PCR and bidirectional sequencing for the HbCS copy number will be performed. Additional charges apply.

Hotline History

View Hotline History

 

Hotline History

Date of Change
Test Name Change
Methodology
Performance/Reported Schedule
Specimen Requirements
Reference Interval
Interpretive Data
Note
CPT Code
Component Change
Other Interface Change
New Test
Inactive
07/20/2026
X
X
X
N/A

CPT Codes

81269; 81265; Fetal Cell Contamination (FCC); if reflexed, add 81257

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Components

Component Test Code* Component Chart Name LOINC
0050548 Maternal Contamination Study Fetal Spec 59266-7
0050612 Maternal Contam Study, Maternal Spec 66746-9
3003658 Specimen HBA DDCSFE 66746-9
3003659 HBA DDCSFE Interpretation 55234-9
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

Aliases

  • A globin
  • Alpha globin gene analysis
  • Alpha globin mutations
  • Alpha thalassemia
Alpha Thalassemia ( HBA1 and HBA2 ) Deletion/Duplication with reflex to Hb Constant Spring, Fetal